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Next-generation sequencing, such as whole-genome sequencing, whole-exome sequencing, and targeted panel sequencing have been applied for diagnosis of many genetic diseases, and are in the process of replacing the traditional methods of genetic analysis. Clinical exome sequencing (CES), which provides not only sequence variation data but also clinical interpretation, aids in reaching a final conclusion with regards to genetic diagnosis. Sequencing of genes with clinical relevance rather than whole exome sequencing might be more suitable for the diagnosis of known hereditary disease with genetic heterogeneity. Here, we present the clinical usefulness of CES for the diagnosis of hereditary spastic paraplegia (HSP). We report a case of patient who was strongly suspected of having HSP based on her clinical manifestations. HSP is one of the diseases with high genetic heterogeneity, the 72 different loci and 59 discovered genes identified so far. Therefore, traditional approach for diagnosis of HSP with genetic analysis is very challenging and time-consuming. CES with TruSight One Sequencing Panel, which enriches about 4,800 genes with clinical relevance, revealed compound heterozygous mutations in
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Spinal dural arteriovenous fistulas (SDAVFs) are the most common type of spinal vascular malformations. However, SDAVFs are still underdiagnosed entities because their clinical symptoms are usually non-specific, as they include low back pain or radiating pain to the limb. There have been several reports of acute paraplegia after lumbar epidural steroid injections in patients with SDAVFs. We present 4 patients with SDAVFs who received lumbar steroid injection. Among the 4 cases, acute paraplegia developed in 2 cases that received a larger volume of injectate than the other cases. Thus, we are suggesting that the volume of injectate may be a contributing factor for acute paraplegia after lumbar steroid injection in patients with SDAVFs.
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To evaluate the usefulness of various magnetic resonance imaging (MRI) findings in the prognosis of neurological recovery in paraplegics with thoracolumbar fracture using association analysis with clinical outcomes and electrodiagnostic features.
This retrospective study involved 30 patients treated for paraplegia following thoracolumbar fracture. On axial and sagittal T2-weighted MRI scans, nerve root sedimentation sign, root aggregation sign, and signal intensity changes in the conus medullaris were independently assessed by two raters. A positive sedimentation sign was defined as the absence of nerve root sedimentation. The root aggregation sign was defined as the presence of root aggregation in at least one axial MRI scan. Clinical outcomes including the American Spinal Injury Association impairment scale, ambulatory capacity, and electrodiagnostic features were used for association analysis.
Inter-rater reliability of the nerve root sedimentation sign and the root aggregation sign were κ=0.67 (p=0.001) and κ=0.78 (p<0.001), respectively. A positive sedimentation sign was significantly associated with recovery of ambulatory capacity after a rehabilitation program (χ2=4.854, p=0.028). The presence of the root aggregation sign was associated with reduced compound muscle action potential amplitude of common peroneal and tibial nerves in nerve conduction studies (χ2=5.026, p=0.025).
A positive sedimentation sign was significantly associated with recovery of ambulatory capacity and not indicative of persistent paralysis. The root aggregation sign suggested the existence of significant cauda equina injuries.
Immunoglobulin G4 (IgG4)-related sclerosing disease is a systemic disease, characterized by mass forming inflammatory lesions which respond well to steroid therapy. Pancreas is the most common site of involvement, and other organ involvements are also common. However, there are only a few reports about central nervous system involvement. We report a case of IgG4-related sclerosing disease which involves spinal cord causing paraplegia. A middle-aged female presented with sudden lower limb weakness. Magnetic resonance imaging showed a soft tissue mass which was diffusely compressing spinal cord along the C7 to T5 levels. Intravenous steroid pulse therapy and emergent operation was performed. The immunopathologic findings revealed IgG4-related sclerosing pachymeningitis postoperatively. There was no evidence of other organ involvement. Her neurologic deficit remained unchanged after two months of comprehensive rehabilitation therapy.
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Spinal epidermoid cyst is less than 1% of the entire spinal cord tumor and a rare tumor. It is a slowly proliferating benign tumor and can be a result of either congenital or acquired factors. In particular, reports of acute paraplegia due to spinal epidermoid cyst rupture are very rare. Since authors experienced paraplegia resulting from congenital spinal epidermoid cyst rupture during an asthma attack, it is reported with a review of literature.
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Spinal cord infarction, especially anterior spinal artery syndrome, is a relatively rare disease. We report a case of spinal cord infarction caused by thoracoabdominal aortic aneurysm with intraluminal thrombus. A 52-year-old man presented with sudden onset paraplegia. At first, he was diagnosed with cervical myelopathy due to a C6-7 herniated intervertebral disc, and had an operation for C6-7 discetomy and anterior interbody fusion. Approximately 1 month after the operation, he was transferred to the department of rehabilitation in our hospital. Thoracoabdominal aortic aneurysm with intraluminal thrombus was found incidentally on an enhanced computed tomography scan, and high signal intensities were detected at the anterior horns of gray matter from the T8 to cauda equina level on T2-weighted magnetic resonance imaging. There was no evidence of aortic rupture, dissection, or complete occlusion of the aorta. We diagnosed his case as a spinal cord infarction caused by thoracoabdominal aortic aneurysm with intraluminal thrombus.
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Method: Eighteen wheelchair ambulators with spinal cord injury who had neurological level below T2 were studied. Patients with peripheral or central neuropathies were excluded. Patients were assigned to either the electrodiagnostic CTS (group CTS, 7) or electrodiagnostically negative (group non- CTS, 11), and healthy volunteers (15) were classified as control group. The cross sectional area of the median nerve (MN-CSA) at carpal pisiform level was ultrasonographically measured. The degree of painful restriction to execute ADL by hands (TR-ADL), the pain grade (visual analog scale, VAS) of upper extremities and revised version of Korean spinal cord independence measure (KSCIM-R) for functional level were measured and analyzed. Results: Nine hands (14.3%) of 7 patients out of 34 hands had CTS in electrodiagnostic study. There were significant difference among groups in TR-ADL hours (CTS group; 5.0 vs non-CTS group; 10.2, p＜0.05), VAS (4.1 vs 2.0, respectively, p＜0.05), and no statistical difference in KSCIM-R (68.4 vs 52.1, p＞0.05), MN-CSA (12.3 mm2 vs 7.9 mm2 vs control group; 8.0 mm2, p＜0.05). Using the ROC curve, the cut-off value of MN-CSA produced 8.5 mm2 providing a diagnostic sensitivity of 77.8% and specificity of 59.6%. Conclusion: The ultrasonographic measurement of the median nerve may be a useful non-invasive screening test for the diagnosis of CTS in paraplegic patients with wrist pain. (J Korean Acad Rehab Med 2008; 32: 216-221)
Intrathecal administration of methotrexate is one of the standard therapies in the acute lymphocytic leukemia (ALL). Spinal puncture and tapping for intrathecal administration of methotrexate is considered as a routine procedure but this procedure carries risks of spinal hematoma in ALL patients. Spinal hematoma after spinal puncture is an uncommon
condition, but it can occur more often in patients with thrombocytopenic or coagulation disorder. We report 4 year-4 month-old boy of ALL with spinal hematoma leading to paraplegia following lumbar puncture for intrathecal methotrexate treatment. (J Korean Acad Rehab Med 2002; 26: 104-107)
Aspergillosis of the spine has been reported infrequently. It has usually been attributed to hematogenous infection, spread from an adjacent pulmonary infection. Acute paraplegia developed in a 68 year old man with aspergillus infection. Histopathologic findings showed aspergillus hyphae and magnetic resonance imaging study revealed mid thoracic cord compression. Direct extension of aspergillus infection caused an epidural abscess, vertebral destruction, thoracic spinal cord compression, and paraplegia.
Ischemic myelopahty of spinal cord after cardiac arrest is rarely reported. In general brain stem and spinal cord is less vulnerable to ischemic injury than cerebrum and cerebellum. Ischemic myelopathy usually occurs in the midthoracic region (T3∼T8) and rarely reported after cardiac arrest.
In this case previously healthy 62 year old patient suffered from cardiac arrhythmia for a few days and then developed cardiac arrest and sustained paraplegia due to ASIA class B spinal cord injury. After paraplegia MRI showed predominant involvement of the anterior horn cell area in the midthoracic region.
Objective: To develop and evaluate a new orthotic device for the knee to improve the ambulation patterns in paraplegic patients.
Method: The new orthotic device combined a high torque servo motor with a bail-lock knee joint, and a its wireless controller adopting open-loop control system. The device was tried in a paraplegic volunteer for two months, simultaneously with the conventional long leg brace.
Results: The new device could keep the orthotic knee joint exended during the stance phase, and allow the sequential flexion and extension of the joint during the swing phase. The new orthotic device provided both longer step length(p＜0.05) and fewer cadence(p＜0.05) maintaining the same walking speed. Also, a circumduction during the swing phase reduced, and the posture of the trunk became straighter. The stride time and the double support period became longer(p＜0.05), and the magnitude of the shift of pelvic center increased(p＜0.05).
Conclusion: The new orthotic device for the knee was developed and evaluated in a paraplegic volunteers who had failed to use the functional electrical stimulation. The results were satisfactory with a probable lower energy efficiency with the new orthosis. Further study for verification of the results seems to be necessary.
Hereditary spastic paraplegia(HSP) is a familial disorder which is inherited by autosomal dominant, autosomal recessive or sex linked pattern. Strumpell first described a familial case of spastic paraplegia characterized by progressive weakness and spasticity of the lower limbs.
We have experienced two cases of hereditary spastic paraplegia with mental retardation and extrapyramidal symptoms with variable severity. They were sisters. Physical examination revealed increased deep tendon reflexes in all four extremities with extensor plantar reflex, and sensory losses mainly affecting joint position and vibration sensations. One case was dysmorphic. The pattern of inheritance was uncertain but considered as an autosomal recessive type. Electrodiagnostic study revealed mild slownesses in motor conduction velocities, reduced amplitude of sensory nerve action potentials and profuse abnormal spontaneous activities in distal lower extremity muscles. Somatosensory evoked potentials were not obtainable from both lower extremity stimulations, but attenuated responses without delayed latencies were obtainable from both upper extremity stimulations.
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